Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature

• Main Authors: Lifen Duan (Author), Lei Ye (Author), Runxiu Yin (Author), Ying Sun (Author), Wei Yu (Author), Yi Zhang (Author), Haiyan Zhong (Author), Xinhua Bao (Author), Xin Tian (Author)
• Format: Book
• Published: BMC, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Developmental and epileptic encephalopathy-50 (DEE-50) is a rare clinical condition believed to be caused by a mutation in the CAD gene and is associated with a bleak prognosis. CAD-related diseases have a wide range of clinical manifestations and other symptoms that may be easil...